Allele Registry

Canonical Allele Identifier: PA2830520705

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV004526443

ClinVar Variation:

3233593

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Ser4377Leu	CA37412700 NM_206933.4:c.13130C>T